| Variant ID | 1541 |
|---|---|
| Entrez Gene ID | 57522 |
| Gene | SRGAP1 (GeneCards) |
| Location | hg19 12:64519801-64519801
hg38 12:64126021-64126021 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000012.11:g.64519801_64519801 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001346201.1 |
| mRNA length | 8444 |
| Reference length | 133851895 |
| Deleterious probability by DeFine | 0.9034 (Deleterious) |
|---|
| Entrez Gene ID | 57522 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRGAP1 (GeneCards) |
| Number of variants in SRGAP1 in this database | 3 (view all the variants) |
| Full name | SLIT-ROBO Rho GTPase activating protein 1 |
| Band | 12q14.2 |
| Other IDs | Vega: OTTHUMG00000168750 OMIM: 606523 HGNC: HGNC:17382 Ensembl: ENSG00000196935 |
| Other names | NMTC2, ARHGAP13 |
| Summary | The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016] |
| Individual ID | 28235832.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |